Canonical Allele Identifier: CA2689437972

Gene: FREM1

Linked Data

• gnomAD v4: 9-14784318-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14784318T>C , CM000671.2:g.14784318T>C	GRCh38
NC_000009.11:g.14784316T>C , CM000671.1:g.14784316T>C	GRCh37
NC_000009.10:g.14774316T>C	NCBI36
NG_017005.2:g.130919A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380880.4:c.4442+52A>G MANE Select	ENSP00000370262.3:n.4442+52A>G
ENST00000380875.7:c.3981+8425A>G	ENSP00000370257.3:n.3981+8425A>G
ENST00000380880.3:c.4442+52A>G	ENSP00000370262.3:n.4442+52A>G
ENST00000422223.6:c.4442+52A>G	ENSP00000412940.2:n.4442+52A>G
ENST00000466679.1:n.472+52A>G
ENST00000485068.5:n.265+52A>G
ENST00000497634.2:n.655A>G
NM_144966.5:c.4442+52A>G	NP_659403.4:n.4442+52A>G
XM_005251382.2:c.4442+52A>G	XP_005251439.1:n.4442+52A>G
XM_005251384.3:c.-4+52A>G	XP_005251441.1:n.-4+52A>G
XM_006716726.2:c.4442+52A>G	XP_006716789.1:n.4442+52A>G
XM_006716729.2:c.-1+52A>G	XP_006716792.1:n.-1+52A>G
XM_011517748.1:c.4442+52A>G	XP_011516050.1:n.4442+52A>G
XM_011517749.1:c.4442+52A>G	XP_011516051.1:n.4442+52A>G
XM_011517750.1:c.4442+52A>G	XP_011516052.1:n.4442+52A>G
XM_011517751.1:c.4442+52A>G	XP_011516053.1:n.4442+52A>G
XM_011517752.1:c.4442+52A>G	XP_011516054.1:n.4442+52A>G
XM_011517753.1:c.4442+52A>G	XP_011516055.1:n.4442+52A>G
XM_011517754.1:c.4442+52A>G	XP_011516056.1:n.4442+52A>G
XM_011517755.1:c.4442+52A>G	XP_011516057.1:n.4442+52A>G
XM_011517756.1:c.4442+52A>G	XP_011516058.1:n.4442+52A>G
XR_929188.1:n.5228+52A>G
XR_929487.1:n.89+4301T>C
XM_005251382.4:c.4442+52A>G	XP_005251439.1:n.4442+52A>G
XM_005251384.4:c.-4+52A>G	XP_005251441.1:n.-4+52A>G
XM_006716729.3:c.-1+52A>G	XP_006716792.1:n.-1+52A>G
XM_017014316.2:c.4469+52A>G	XP_016869805.1:n.4469+52A>G
XM_017014317.1:c.4469+52A>G	XP_016869806.1:n.4469+52A>G
XM_017014319.2:c.4469+52A>G	XP_016869808.1:n.4469+52A>G
XM_017014320.2:c.4469+52A>G	XP_016869809.1:n.4469+52A>G
XM_017014321.2:c.4469+52A>G	XP_016869810.1:n.4469+52A>G
XM_017014322.1:c.4469+52A>G	XP_016869811.1:n.4469+52A>G
XM_017014323.1:c.4469+52A>G	XP_016869812.1:n.4469+52A>G
XM_017014324.2:c.4469+52A>G	XP_016869813.1:n.4469+52A>G
XM_017014325.2:c.4469+52A>G	XP_016869814.1:n.4469+52A>G
XM_017014326.1:c.4061+52A>G	XP_016869815.1:n.4061+52A>G
XM_017014327.2:c.3545+52A>G	XP_016869816.1:n.3545+52A>G
XM_017014328.2:c.4469+52A>G	XP_016869817.1:n.4469+52A>G
XM_017014329.2:c.4469+52A>G	XP_016869818.1:n.4469+52A>G
XR_001746194.2:n.5255+52A>G
XR_001746195.2:n.5255+52A>G
XR_001746197.2:n.5251+52A>G
NR_163238.1:n.4797+8425A>G
NR_163239.1:n.5197+52A>G
NM_001379081.2:c.4442+52A>G MANE Select	NP_001366010.1:n.4442+52A>G
NM_144966.7:c.4442+52A>G	NP_659403.4:n.4442+52A>G
NR_163238.2:n.4797+8425A>G
NR_163239.2:n.5197+52A>G